Allele Registry

Canonical Allele Identifier: PA2830323677

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

192611

ClinVar RCV:

RCV000597464

RCV000798205

RCV003462280

ClinVar Variation:

195450

HGVS (amino-acid)	Matching Registered Transcripts
NP_775111.1:p.Leu200Phe	CA241878 NM_173088.2:c.598C>T